Article

Original Article

Ann Lab Med 2013; 33(4): 248-254

Published online July 1, 2013 https://doi.org/10.3343/alm.2013.33.4.248

Copyright © Korean Society for Laboratory Medicine.

Impact of Genetic Abnormalities on the Prognoses and Clinical Parameters of Patients with Multiple Myeloma

Dong Wook Jekarl, M.D.1, 2, Chang-Ki Min, M.D.3, Ahlm Kwon, M.T.2, Hyunjung Kim, M.D.1, Hyojin Chae, M.D.1,2, Myungshin Kim, M.D.1,2, Jihyang Lim, M.D.1, Yonggoo Kim, M.D.1, 2, and Kyungja Han, M.D.1, 2

Department of Laboratory Medicine1, Catholic Genetic Laboratory Center; Seoul St. Mary’s Hospital2; Catholic Hematopoietic Stem Cell Transplantation Center3, College of Medicine, The Catholic University of Korea, Seoul, Korea

Correspondence to: Myungshin Kim
Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul 137-701, Korea
Tel: +82-2-2258-1645
Fax: +82-2-2258-1719
E-mail: microkim@catholic.ac.kr

Received: November 27, 2012; Revised: March 18, 2013; Accepted: May 16, 2013

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Background: We reviewed patients with multiple myeloma (MM) in order to assess the incidence of genetic abnormalities and their associations with clinical parameters, risk groups, and prognosis. Methods: A total of 130 patients with MM were enrolled. The incidences of genetic abnormalities were determined in all patients. The relationships of the genetic abnormalities and clinical parameters were investigated. In addition, a survival analysis was performed. Results: Abnormal karyotypes were detected in 42.3% (N=55) of the patients, and this was increased to 63.1% (N=82) after including the results determined with interphase FISH. Hypodiploidy was observed in 7.7% (N=10) of the patients, and all were included in the group with complex karyotypes (30.8%, N=40). The 14q32 rearrangements were detected in 29.2% (N=38) of the patients, and these most commonly included t(11;14), which was followed by t(4;14) and t(14;16) (16.2%, 11.5%, and 0.8%, respectively). Abnormal karyotypes and complex karyotypes were associated with disease progression markers, including low hemoglobin levels, low platelet counts, high plasma cell burden, high β2-microglobulin, and high international staging system stages. A high free light chain (FLC) ratio and FLC difference were associated with abnormal karyotypes, complex karyotypes, and higher plasma cell burden. Hypodiploidy and low platelet counts were significant independent prognostic factors and were more important in patient outcome than any single abnormality. Conclusions: Genetic abnormalities were associated with disease progression markers and prognosis of MM patients.

Keywords: Multiple myeloma, Cytogenetics, Fluorescence in situ hybridization, Free light chain